Penile agenesis: a fatal variation of an uncommon lesion.
Two male neonates (46XY karyotype) were born with a triad of penile agenesis associated with imperforate anus and complete absence of the median raphe. Both patients died of renal dysplasia and secondary pulmonary hypoplasia shortly after birth. This triad appears to be secondary to a lack of caudal mesoderm migration during month 1 of gestation, leading to severe developmental defects in the caudal axis. In all reported cases to date this triad of findings has been incompatible with extrauterine life.
Gilbert
J
J
Department of Surgery (Urology), Harbor/UCLA Medical Center, Torrance.
Clark
R D
RD
Koyle
M A
MA
D000015:Abnormalities, Multiple / Q000235:genetics*; D001006:Anus, Imperforate / Q000235:genetics*; D014644:Genetic Variation; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010413:Penis / Q000002:abnormalities*